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Title: Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux
Authors: Heather J. Cordell
Rebecca Darlay
Pimphen Charoen
Aisling Stewart
Ambrose M. Gullett
Heather J. Lambert
Sue Malcolm
Sally A. Feather
Timothy H.J. Goodship
Adrian S. Woolf
Rajko B. Kenda
Judith A. Goodship
Newcastle University, United Kingdom
University of Cambridge
Mahidol University
UCL Institute of Child Health
Royal Victoria Infirmary
St James's University Hospital
Univerzitetni Klinicni Center Ljubljana
Keywords: Medicine
Issue Date: 1-Jan-2010
Citation: Journal of the American Society of Nephrology. Vol.21, No.1 (2010), 113-123
Abstract: Primary vesicoureteric reflux accounts for approximately 10% of kidney failure requiring dialysis or transplantation, and sibling studies suggest a large genetic component. Here, we report a whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux and reflux nephropathy. We used linkage and family-based association approaches to analyze 320 white families (661 affected individuals, generally from families with two affected siblings) from two populations (United Kingdom and Slovenian). We found modest evidence of linkage but no clear overlap with previous studies. We tested for but did not detect association with six candidate genes (AGTR2, HNF1B, PAX2, RET, ROBO2, and UPK3A). Family-based analysis detected associations with one single-nucleotide polymorphism (SNP) in the UK families, with three SNPs in the Slovenian families, and with three SNPs in the combined families. A case-control analysis detected associations with three additional SNPs. The results of this study, which is the largest to date investigating the genetics of reflux, suggest that major loci may not exist for this common renal tract malformation within European populations. Copyright © 2010 by the American Society of Nephrology.
ISSN: 15333450
Appears in Collections:Scopus 2006-2010

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